Glycogen storage disease type I (GSDI) is a group of rare inherited diseases resulting from a defect in the glucose-6-phosphatase (G6Pase) system which has a key role in glucose homeostasis as it is required for the hydrolysis of glucose-6-phosphate (G6P) into glucose and inorganic phosphate (Pi). Here, G6PC1 is linked to glycogen storage disease I.